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Research

Human Subjects Research Projects

Exploratory Characterization of Mast Cell Regulatory Gene Mutations in Mast Cell Activation syndrome (MCAS)This study of 20 MCAS patients ages 18-50 and 20 age/sex/race-matched healthy control subjects is taking a blood sample from each subject, extracting the mast cells, and performing in these extracts whole-gene sequencing of a number of mast cell regulatory genes in order to determine the frequencies of mutations in these genes in MCAS patients vs. healthy controls. This study will help address the question of how commonly MCAS is a clonal disorder (i.e., rooted in mutations (whether acquired or inherited) in the mast cells' genetic program). If clonality is found to be common, future studies will attempt to clarify the molecular and clinical consequences of the various mutations found and to identify treatments for variants of MCAS defined by their mutational profiles. For more information, please contact principal investigator Lawrence B. Afrin, MD.

Genomic Profiling of Urticaria PigmentosaThis study is taking blood samples from patients with the form of cutaneous mastocytosis called urticaria pigmentosa (UP) and performing whole genome sequencing to try to identify genetic mutations which may cause UP. This is the first study to perform a comprehensive genetic assessment of UP. For more information, please contact co-principal investigators Dr. Sheilagh Maguiness with the University of Minnesota Department of Dermatology and Dr. Lucie Turcotte with the University of Minnesota Division of Pediatric Hematology/Oncology.

Non-Human Subjects Research Projects

Mast Cells in Luminal Gastrointestinal Tract Biopsies from Patients with Graft-vs.-Host DiseaseThere are features of graft vs. host disease (GVHD, a disease suffered post-transplant by many stem cell transplant patients which often is difficult to control) suggesting increased numbers and/or activation of mast cells may contribute significantly to the development and course of the disease. Luminal gastrointestinal (GI) biopsies often are obtained in GVHD patients in efforts to understand what is causing the GI symptoms in such patients. Mast cells are essentially impossible to identify as such on routine pathological analysis of GI tract biopsies and often masquerade as other common types of cells such as lymphocytes. As such, it is possible that mast cell disease is present in GI GVHD but is going undetected. This exploratory study is examining luminal GI tract biopsies taken in the past from stem cell transplant patients with GVHD to characterize the presence of mast cells in such biopsies. For more information, please contact co-principal investigators Dr. Celalettin Ustun with the University of Minnesota Division of Hematology, Oncology & Transplantation and Dr. Mahmoud Khalifa with the University of Minnesota Department of Pathology.